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Biomedical subjects

C Fairley

Publications and source records attributed to C Fairley.

At least 19 recordsLinked to original sources
PubMed2006

Psychological complications of patients with Gaucher disease.

The Minnesota Multiphasic Personality Inventory (MMPI-2) is commonly used in chronic illness and chronic pain populations to assess psychological functioning. We report the results of the first study employing the MMPI-2 to assess psychological aspects of patients with Gaucher disease, type I (GD) is an inborn error of metabolism with unique features as a chronic illness: the disorder often presents with mild symptoms, and is frequently diagnosed in later childhood or adulthood; the treatment is highly efficacious, but, that same treatment is intrusive and expensive and requires that patients restructure their work and personal schedules. In this study, 28 patients with GD completed the MMPI-2 and a background questionnaire. GD patients scored significantly higher than the MMPI-2 normative sample on MMPI-2 scales of Validity (K), Hypochondriasis (Hs), Depression (D), Hysteria (Hy), Psychasthenia (Pt) and Schizophrenia (Sc). Individuals with elevated scores on the Hs, D and Hy scales tend to have somatic concerns and depressed mood. Under stress, they are likely to report physical symptoms. Elevated Pt and Sc scales suggest psychological turmoil and, possibly feelings of isolation. An elevated K scale indicates a tendency for individuals to deny psychopathology. The length of time the patient with GD had been on enzyme replacement therapy was not significantly related to any of the 13 MMPI-2 scales. Cohorts of patients with chronic heart disease (CRHD) and cohorts of patients with chronic pain were utilized as comparative populations in this investigation. The elevated scores of the GD patients on MMPI-2 scales Hs, D and Hy were similar to those of the CRHD population. The chronic pain patients also showed elevations on MMPI-2 scales Hs, D and Hy, which were elevated in the GD patients; the elevations in the chronic pain patients were higher than those shown by the GD patients. We conclude that patients with GD exhibit moderate to severe psychological complications, similar to patients with other long-term chronic illnesses.

Adolescent↗
PubMed2006

Knowledge and attitudes toward a free education and Ashkenazi Jewish carrier testing program.

Carrier testing is offered on the basis of Ashkenazi Jewish background in both the prenatal and preconception settings, with the goal of decreasing the prevalence of affected individuals and allowing informed decision-making during childbearing. The purpose of this study was to (1) document the demographic characteristics of individuals who attended a free education and screening program, (2) learn how the education program changed attendees' knowledge and attitudes by learning more about these disorders, and (3) determine how participants perceived their carrier status risk. One hundred seventy-four individuals completed questionnaires at the beginning and end of an educational program about the Ashkenazi Jewish genetic disorders. There was a statistically significant difference in the participant's level of knowledge from the pre- to post education (p < .001). Females reported a significantly higher level of concern about the disorders (p = .004) and their carrier status (p = .006) before the education, as well as about their carrier status post education (p = .05). Finally, having one or more parent affiliated with Orthodox Judaism was related to higher knowledge before the education program (p = .05). In conclusion, this study demonstrated that an educational carrier screening program increased knowledge about the disorders and also produced mild anxiety regarding personal and reproductive risks.

Adult↗
PubMed2005

Mass media interventions for promoting HIV testing.

BACKGROUND: Use of the mass media is one of the important strategies in communicating behavioral change in relation to HIV/AIDS prevention. Mass media are used to promote voluntary HIV counseling and testing and to sustain test-seeking behavior. OBJECTIVES: To assess the effect of mass media interventions and the most effective form of mass media intervention at a general population level or in specific target populations, in relation to changes in HIV testing, compared with a control group or with pre-intervention levels. SEARCH STRATEGY: We searched the Cochrane Central Register of Controlled Trials (The Cochrane Library Issue 2, 2004), MEDLINE (1966 to April 2004), EMBASE (1980 to April 2004), NLM Gateway, CINAHL (1982 to April 2004), AIDSearch (1980 to April 2004), and PsycINFO (1974 to April 2004), Sociological abstracts (1982 to April 2004), and Communication studies (1982 to April 2003). The reference lists of related reviews were searched and experts in the field were contacted to identify ongoing research. Relevant web sites of international agencies (UNAIDS, WHO, UNFPA, World Bank, and Centers for Disease Control and Prevention) were also searched. All these searches were done without language restriction. All databases were searched up to April 2004. SELECTION CRITERIA: Randomized controlled trials, including cluster-randomized trials and controlled clinical trials, that compared either multimedia interventions or one type of media strategy with a control in relation to promotion of HIV testing were included. Interrupted time series analyses that assessed the effect of mass media against no media or an alternative intervention to promote HIV testing were also included. DATA COLLECTION AND ANALYSIS: Two reviewers independently assessed trial quality and extracted data. Study authors were contacted for additional information. Types of mass media interventions, participants, and outcomes were extracted in every possible instance. MAIN RESULTS: Of the 35 references that were identified, two randomized controlled trials, three non-randomized controlled studies, and nine interrupted time series were included in the final analysis. All individual studies concluded that mass media were effective, and this was confirmed by reanalysis of the interrupted time series studies which all had initial impact. Mass media interventions for promotion of HIV testing showed significant immediate (Random effect: Estimated mean = 5.487, 95%CI = 2.370 to 8.605) and overall (Random effect: Estimated mean = 6.095, 95%CI = 1.812 to 10.378) effect. No long-term effects were seen on mass media interventions for promotion of HIV testing (Random effect: Estimated mean = 4.447, 95%CI = -0.188 to 9.082). AUTHORS' CONCLUSIONS: Mass media interventions have immediate and overall effects in promotion of HIV testing. No long-term effects were seen. There was no significant impact of detecting seropositive status after mass media intervention for promoting HIV testing, and this finding was limited to a small number of studies. Further research is required to identify possible effects on seropositivity status after mass media intervention for promotion of HIV testing among high-risk groups in epidemic countries. Additional research is needed to identify the effectiveness of different types of mass media interventions, the cost effectiveness of the interventions, and characteristics of messages.

Controlled Clinical Trials as Topic↗
PubMed2005

Men, bodily change and urethritis: a qualitative study.

OBJECTIVES: To describe how men narrate the process of bodily change as a trigger to presentation for a suspected sexually transmissible infection. METHODS: The study was qualitative with 18 men presenting at a specialist sexual health centre in an urban setting. RESULTS: All men gave narratives that included accounts of bodily changes prior to presentation. The nature, severity and persistence of those changes were unrelated to subsequent diagnosis. Men responded particularly to visual changes as cues to action. CONCLUSIONS: The men exhibited limited skills in understanding the significance and the specifics of bodily change as they may relate to a sexually transmissible infection. While these men identified a broad range of changes as potentially indicative of a sexually transmissible infection, their ability to act on visceral rather than visual cues appears constrained in that they were less able to respond to the feel of their body than the way that it looked.

Adult↗
PubMed2003

Risk factors leading to Cryptosporidium infection in men who have sex with men.

OBJECTIVES: Cryptosporidiosis is a devastating illness in people with HIV/AIDS yet there have been no analytical epidemiological studies measuring risk factors leading to cryptosporidiosis in men who have sex with men (MSM). The objective of this study was to measure the risk factors for exposure to Cryptosporidium among MSM. METHODS: The study was a case-control design. It recruited MSM who had laboratory confirmed Cryptosporidium infection between 1997 and 2000. Participants answered a questionnaire about potential risk factors leading to exposure to Cryptosporidium. RESULTS: 10 cases and 24 controls were recruited. Men having more than one sexual partner in the past month were more likely to have had Cryptosporidium diarrhoea p=0.034 (OR 6.67, CI (1.15 to 38.60). Insertive anal sex (p=0.059) and attending a sex venue one or more times (p=0.059) also increased the odds of having cryptosporidiosis. CONCLUSION: The study results suggest that sexual behaviour is a significant risk factor for cryptosporidial diarrhoea in MSM. The results will be used to inform risk groups about behaviours that may put them at increased risk of cryptosporidial diarrhoea.

Case-Control Studies↗
PubMed2000

Survival after rhino-orbital-cerebral mucormycosis in an immunocompetent patient.

OBJECTIVE: Rhino-orbital-cerebral mucormycosis is usually associated with a poor prognosis and is almost exclusively seen in immunocompromised patients. We report the third documented case of rhino-orbital-cerebral mucormycosis caused by Apophysomyces elegans (a new genus of the family Mucoraceae first isolated in 1979) in an immunocompetent individual. Orbital exenteration and radical debridement of involved adjacent structures combined with intravenous liposomal amphotericin resulted in patient survival. DESIGN: Interventional case report. METHOD: A 59-year-old immunocompetent white man sustained a high-pressure water jet injury to the right inner canthus while cleaning an air conditioner filter. He later had "orbital cellulitis" develop that did not respond to antibiotics and progressed to orbital infarction. Imaging studies and biopsy results led to a diagnosis of mucormycosis. Tissue culture grew Apophysomyces elegans, a new genus of the family Mucoraceae first isolated in 1979. Orbital exenteration and radical debridement of involved adjacent structures, combined with intravenous liposomal amphotericin, resulted in patient survival. RESULTS: After orbital exenteration and debridement of involved adjacent structures along with intravenous liposomal amphotericin, our patient has remained free from relapse with long-term follow-up. CONCLUSIONS: The agent causing this case of rhino-orbital-cerebral mucormycosis (Apophysomyces elegans) contrasts with the three genera most commonly responsible for mucormycosis (Rhizopus, Mucor, and Absidia) in that infections with this agent tend to occur in warm climates, by means of traumatic inoculation, and in immunocompetent patients. Rhino-orbital-cerebral mucormycosis should be considered in all patients with orbital inflammation associated with multiple cranial nerve palsies and retinal or orbital infarction, regardless of their immunologic status. A team approach to management is recommended for early, appropriate surgery and systemic antifungal agents.

Amphotericin B↗
PubMed2000

Tay-Sachs disease carrier screening: a 21-year experience.

This paper presents the findings of a community-based carrier screening program for Tay-Sachs disease, initiated on the University of Wisconsin-Madison campus in 1978. The Madison Community Tay-Sachs Screening Program (MCTSSP) is a collaborative, interdisciplinary program that organizes and conducts periodic screening for Tay-Sachs disease (TSD) for the purpose of identifying Tay-Sachs carriers. We present and analyze data on carrier detection with regard to various demographics, including family history of TSD, ancestry, gender, medication exposure, and illness. Individuals participating in the MCTSSP between 1978 and 1999 were primarily of the target population, and the carrier rate was within the expected range (1/25). Despite aggressive publicity efforts and a well-established program, attendance at the screens has declined. A recent survey of Jewish undergraduate students at the University of Wisconsin-Madison showed poor recall of family screen history and carrier status and reinforced the perception that utilization of the Madison screening program has been low. Ways to increase awareness of and interest in carrier screening for TSD are explored.

Adult↗
PubMed2000

Mre11 and Rad50 from Pyrococcus furiosus: cloning and biochemical characterization reveal an evolutionarily conserved multiprotein machine.

The processing of DNA double-strand breaks is a critical event in nucleic acid metabolism. This is evidenced by the severity of phenotypes associated with deficiencies in this process in multiple organisms. The core component involved in double-strand break repair in eukaryotic cells is the Mre11-Rad50 protein complex, which includes a third protein, p95, in humans and Xrs2 in yeasts. Homologues of Mre11 and Rad50 have been identified in all kingdoms of life, while the Nbs1 protein family is found only in eukaryotes. In eukaryotes the Mre11-Rad50 complex has nuclease activity that is modulated by the addition of ATP. We have isolated the Mre11 and Rad50 homologues from the thermophilic archaeon Pyrococcus furiosus and demonstrate that the two proteins exist in a large, heat-stable complex that possesses single-strand endonuclease activity and ATP-dependent double-strand-specific exonuclease activity. These findings verify the identification of the P. furiosus Rad50 and Mre11 homologues and demonstrate that functional homologues with similar biochemical properties exist in all kingdoms of life.

Amino Acid Sequence↗
PubMed1998

The joining of blunt DNA ends to 3'-protruding single strands in Escherichia coli.

In eukaryotic and prokaryotic organisms DNA double-strand breaks with non-complementary ends can be joined by mechanisms of illegitimate recombination. We examined the joining of 3'-protruding single strand (PSS) ends, which do not have recessed 3' hydroxyls that can allow for fill-in DNA synthesis, to blunt ends. End-joining was examined by electro-transforming Escherichia coli strains with linearized plasmid DNA, sequencing the resulting junctions, and determining the transformation frequencies. Three different E.coli strains were examined: MC1061, which has no known recombination or DNA repair defects, HB101 (rec A-) and SURE (recB- recJ-). No striking differences were found in either the spectrum of products observed or the efficiency of end-joining between these strains. As in vertebrate systems, the majority of the products were overlaps between directly repeated DNA sequences. 3'-PSS are frequently preserved in vertebrate systems, but they were not preserved in our experiments unless the transforming DNA was pretreated with a DNA polymerase.

Base Sequence↗
PubMed1997

High dose cytosine arabinoside is a major risk factor for the development of hepatosplenic candidiasis in patients with leukemia.

A retrospective study of hepatosplenic candidiasis in patients with acute leukemia from a single centre was performed. The significance of age, sex, type of leukemia, dose of cytosine arabinoside (Ara-C), duration of neutropenia, steroid use and period of therapeutic antibiotics in the development of hepatosplenic candidiasis was analyzed, using logistic regression analysis. Nine of 51 patients had hepatosplenic candidiasis. Ara-C use was highly associated with the development of hepatosplenic candidiasis (p = 0.001); with a high association with a higher dose (p < 0.0001). On the basis of these results consideration should be given to further trial of antifungal prophylaxis for patients receiving high dose Ara-C.

Adult↗
PubMed1996

Epidemiological features of Coxiella burnetii infection in England and Wales: 1984 to 1994.

Q fever is an important zoonosis caused by the rickettsial organism Coxiella burnetii, which can result in life threatening illness, especially in those with an underlying cardiac defect. C. burnetii infections in England and Wales reported to the PHLS Communicable Disease Surveillance Centre between 1984 and 1994 were reviewed. A total of 1117 cases were reported, a third of which came from the South Western region. The annual totals fell over this period. The mean age of cases was 45 years, and 74% were men. Reports peaked in the month of May. Contact with animals, mainly cattle and sheep, was reported in 60 cases. Occupationally acquired infection was reported for 24 cases including abattoir workers, farmers, veterinary surgeons, hide handlers, and butchers. Forty-seven per cent of cases presented with respiratory symptoms, 7% with heart disease, and 5% with hepatitis. Seven per cent of cases reported travel abroad before becoming ill. Joint veterinary and medical investigations should be undertaken to establish the natural history of C. burnetii infection in England and Wales and formulate policies to prevent acute and chronic infections.

Adult↗
PubMed1996

A 610 kb YAC clone harbors 7 cM of tomato (Lycopersicon esculentum) DNA that includes the male sterile 14 gene and a hotspot for recombination.

Pollen development requires both sporophytic and gametophytic gene expression. We are using a map-based cloning technique to isolate sporophytic genes which, when mutant, cause pollen abortion and a male sterile (ms) phenotype in tomato (Lycopersicon esculentum). We have genetically characterized one ms locus (ms14) using RFLP analysis and identified flanking markers. High-resolution genomic physical mapping indicates that the ms14 locus is located in a approximately 300 kb region. We have identified a YAC clone with an insert size of approximately 610 kb that contains the ms14-linked markers, reflects the organization of the physical map and therefore most probably contains the ms14 gene. In addition, we present evidence that the relationship between physical and genetic distance in this chromosomal region changes abruptly from approximately 105-140 kb/cM to less than 24kb/cM, and suggest that the TG393-TG104 region is a hotspot for recombination.

Chromosome Mapping↗